Lista de obras - Christelle Golzio - Dominio Público Uruguay

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

artículo científico publicado en 2015

A dominant vimentin variant causes a rare syndrome with premature aging

artículo científico publicado en 2020

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans

artículo científico publicado en 2014

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

artículo científico publicado en 2014

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

artículo científico publicado en 2015

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

artículo científico publicado en 2006

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

artículo científico publicado en 2017

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article published on 01 April 2017

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

scientific article published on 19 March 2020

Disruptive CHD8 mutations define a subtype of autism early in development

artículo científico publicado en 2014

Endoglin interacts with VEGFR2 to promote angiogenesis.

artículo científico publicado en 2018

Endoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cells

artículo científico publicado en 2012

Endoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis

artículo científico publicado en 2012

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

artículo científico publicado en 2012

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

artículo científico publicado en 2013

Genetic architecture of reciprocal CNVs

artículo científico

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

scientific journal article

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

artículo científico publicado en 2009

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

artículo científico publicado en 2012

Identification of cis-suppression of human disease mutations by comparative genomics

artículo científico publicado en 2015

In vivo modeling of the morbid human genome using Danio rerio

artículo científico publicado en 2013

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

scientific article published on 25 November 2019

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

artículo científico publicado en 2012

Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions

scientific article published on 01 May 2019

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

artículo científico publicado en 2009

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

artículo científico publicado en 2007

Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion ofFGF10 andFGFR2

Mitochondrial Copy Number as a Biomarker for Autism?

artículo científico publicado en 2016

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

artículo científico publicado en 2009

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

artículo científico publicado en 2012

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

artículo científico publicado en 2020

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

artículo científico publicado en 2015

Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development

artículo científico publicado en 2013

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

artículo científico publicado en 2017

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

article

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

artículo científico publicado en 2009

Phosphorylation of Threonine 794 on Tie1 by Rac1/PAK1 Reveals a Novel Angiogenesis Regulatory Pathway

artículo científico publicado en 2015

Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly

artículo científico publicado en 2015

Regulation of autism-relevant behaviors by cerebellar-prefrontal cortical circuits

scientific article published on 13 July 2020

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

artículo científico publicado en 2013

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

artículo científico publicado en 2013

Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome

scientific article published on 17 July 2018

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs

artículo científico publicado en 2017

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

artículo científico publicado en 2007

Lista de obras de Christelle Golzio

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

A dominant vimentin variant causes a rare syndrome with premature aging

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

Disruptive CHD8 mutations define a subtype of autism early in development

Endoglin interacts with VEGFR2 to promote angiogenesis.

Endoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cells

Endoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

Genetic architecture of reciprocal CNVs

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

Identification of cis-suppression of human disease mutations by comparative genomics

In vivo modeling of the morbid human genome using Danio rerio

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion ofFGF10 andFGFR2

Mitochondrial Copy Number as a Biomarker for Autism?

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

Phosphorylation of Threonine 794 on Tie1 by Rac1/PAK1 Reveals a Novel Angiogenesis Regulatory Pathway

Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly

Regulation of autism-relevant behaviors by cerebellar-prefrontal cortical circuits

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome